CDKL5

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

Description

cyclin dependent kinase like 5

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

X:p22.13 (18425583 - 18653629)

Ensembl ID

ENSG00000008086  (ver. 99.38)

Orthologs

Mouse Cdkl5: ENSMUSG00000031292

UniProt

O76039

neXtProt

NX_O76039

Human splice variants
Mouse splice variants